Androgen insensitivity syndrome risk factors: Difference between revisions
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==Overview== | ==Overview== | ||
The risk of gonadal germ cell tumor is low during childhood and adolescence but increases in later adulthood. Benign tumours of non-germ-cell origin include Sertoli cell adenoma and hamartomas. | |||
==Risk Factors== | ==Risk Factors== | ||
Revision as of 01:28, 11 July 2017
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Overview
The risk of gonadal germ cell tumor is low during childhood and adolescence but increases in later adulthood. Benign tumours of non-germ-cell origin include Sertoli cell adenoma and hamartomas.
Risk Factors
- The risk of gonadal germ cell tumor is low during childhood and adolescence but increases in later adulthood.[1]
- Benign tumours of non-germ-cell origin include Sertoli cell adenoma and hamartomas. [2]
- Studies have suggested an increased tumour risk of greater than 30% in late adulthood if gonadectomy is not done and a review of the risk of adult women with complete androgen insensitivity syndrome having a gonadal tumour could not be more specific than 0–22%. Specific analyses in large sample groups suggest a germ-cell tumour risk as low as 0·8–2%, especially before puberty. [3]
- Evaluation of Relatives at Risk may help identify affected individuals at an early stage. [3]
- It is advisable to evaluate the apparently asymptomatic older and younger siblings of a proband in order to identify as early as possible those who would benefit from institution of treatment and preventive measures.
- For an apparently asymptomatic older or younger sib who has normal external female genitalia and who has not yet undergone menarche, a karyotype can be done first. For those phenotypic females who have a 46,XY karyotype, molecular genetic testing for the known AR variant in the family can be pursued next. If the AR variant in the family is not known, androgen binding assays could be considered.
References
- ↑ Hughes IA, Werner R, Bunch T, Hiort O (2012). "Androgen insensitivity syndrome". Semin Reprod Med. 30 (5): 432–42. doi:10.1055/s-0032-1324728. PMID 23044881.
- ↑ Hughes IA, Davies JD, Bunch TI, Pasterski V, Mastroyannopoulou K, MacDougall J (2012). "Androgen insensitivity syndrome". Lancet. 380 (9851): 1419–28. doi:10.1016/S0140-6736(12)60071-3. PMID 22698698.
- ↑ 3.0 3.1 Pagon RA, Adam MP, Ardinger HH, Wallace SE, Amemiya A, Bean L, Bird TD, Ledbetter N, Mefford HC, Smith R, Stephens K, Gottlieb B, Trifiro MA. PMID 20301602. Vancouver style error: initials (help); Missing or empty
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